PON1 L55M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PON1 Leu55Met)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr7:94946084: 30.5% (3284/10758) in EVS
  • T @ chr7:94784019: 23.8% (30/126) in GET-Evidence
  • Frequency shown in summary reports: 30.5% (3284/10758)


Brophy VH, Jarvik GP, Richter RJ, Rozek LS, Schellenberg GD, Furlong CE. Analysis of paraoxonase (PON1) L55M status requires both genotype and phenotype. Pharmacogenetics. 2000 Jul;10(5):453-60. PubMed PMID: 10898114.


Martínez C, Molina JA, Alonso-Navarro H, Jiménez-Jiménez FJ, Agúndez JA, García-Martín E. Two common nonsynonymous paraoxonase 1 (PON1) gene polymorphisms and brain astrocytoma and meningioma. BMC Neurol. 2010 Aug 19;10:71. PubMed PMID: 20723250; PubMed Central PMCID: PMC2936881.


Hussein YM, Gharib AF, Etewa RL, ElSawy WH. Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and their clinical significance. Mol Cell Biochem. 2011 May;351(1-2):117-23. Epub 2011 Jan 13. PubMed PMID: 21229382.


Martínez-Salazar MF, Almenares-López D, García-Jiménez S, Sánchez-Alemán MA, Juantorena-Ugás A, Ríos C, Monroy-Noyola A. Relationship between the paraoxonase (PON1) L55M and Q192R polymorphisms and obesity in a Mexican population: a pilot study. Genes Nutr. 2011 Nov;6(4):361-8. Epub 2011 Mar 25. PubMed PMID: 21484160; PubMed Central PMCID: PMC3197847.


Ezzaher A, Mouhamed DH, Mechri A, Neffati F, Rejeb J, Omezzine A, Douki W, Bouslama A, Gaha L, Najjar MF. Association between bipolar I disorder and the L55M and Q192R polymorphisms of the paraoxonase 1 (PON1) gene. J Affect Disord. 2012 Jun;139(1):12-7. Epub 2011 Jul 23. PubMed PMID: 21783258.


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PubMed PMID: 21887553


Saadat M. Paraoxonase 1 genetic polymorphisms and susceptibility to breast cancer: a meta-analysis. Cancer Epidemiol. 2012 Apr;36(2):e101-3. Epub 2011 Nov 30. PubMed PMID: 22133529.


Fang DH, Fan CH, Ji Q, Qi BX, Li J, Wang L. Differential effects of paraoxonase 1 (PON1) polymorphisms on cancer risk: evidence from 25 published studies. Mol Biol Rep. 2012 Jun;39(6):6801-9. Epub 2012 Feb 10. PubMed PMID: 22322559.


Liu YL, Yang J, Zheng J, Liu DW, Liu T, Wang JM, Wang CN, Wang MW, Tian QB. Paraoxonase 1 polymorphisms L55M and Q192R were not risk factors for Parkinson's disease: a HuGE review and meta-analysis. Gene. 2012 Jun 15;501(2):188-92. Epub 2012 Apr 9. Review. PubMed PMID: 22521594.


Pi Y, Zhang L, Chang K, Li B, Guo L, Fang C, Gao C, Wang J, Xiang J, Li J. Lack of an association between Paraoxonase 1 gene polymorphisms (Q192R, L55M) and Alzheimer's disease: a meta-analysis. Neurosci Lett. 2012 Aug 15;523(2):174-9. Epub 2012 Jul 7. PubMed PMID: 22776645.


de Aguiar Gonçalves BA, Vasconcelos GM, Thuler LC, Andrade C, Faro A, Pombo-de-Oliveira MS; Brazilian Collaborative Study Group of Infant Acute Leukemia. NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution. Cancer Causes Control. 2012 Nov;23(11):1811-9. doi: 10.1007/s10552-012-0060-5. Epub 2012 Sep 14. PubMed PMID: 22976839.




hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr7:94946084


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr7:94946084











hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr7:94946084










huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr7:94946084



huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr7:94946084





GS06994 - var-GS06994-1100-36-ASM
het T @ chr7:94784020


GS07357 - var-GS07357-1100-36-ASM
het T @ chr7:94784020


GS12004 - var-GS12004-1100-36-ASM
hom T @ chr7:94784020


GS18505 - var-GS18505-1100-36-ASM
het T @ chr7:94784020


GS18517 - var-GS18517-1100-36-ASM
het T @ chr7:94784020


GS18947 - var-GS18947-1100-36-ASM
het T @ chr7:94784020


GS19017 - var-GS19017-1100-36-ASM
het T @ chr7:94784020


GS19025 - var-GS19025-1100-36-ASM
het T @ chr7:94784020


GS19026 - var-GS19026-1100-36-ASM
hom T @ chr7:94784020


GS19704 - var-GS19704-1100-36-ASM
het T @ chr7:94784020


GS21767 - var-GS21767-1100-36-ASM
het T @ chr7:94784020


Other external references

  • rs854560

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history

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